Aliases & Classifications for Mutism

MalaCards integrated aliases for Mutism:

Name: Mutism 12 29 6 43 15 71

Classifications:



External Ids:

Disease Ontology 12 DOID:4189
MeSH 43 D009155
SNOMED-CT 67 88052002
UMLS 71 C0026884

Summaries for Mutism

Disease Ontology : 12 A speech disorder that involves a complete inability to speak.

MalaCards based summary : Mutism is related to akinetic mutism and frontotemporal dementia, chromosome 3-linked, and has symptoms including photophobia, restlessness and scanning speech. An important gene associated with Mutism is SHANK3 (SH3 And Multiple Ankyrin Repeat Domains 3), and among its related pathways/superpathways are Neuroscience and Amphetamine addiction. The drugs Fluoxetine and Antidepressive Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and cerebellum, and related phenotypes are Decreased Sindbis virus (SINV) infection and Decreased Sindbis virus (SINV) infection

Related Diseases for Mutism

Diseases related to Mutism via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 365)
# Related Disease Score Top Affiliating Genes
1 akinetic mutism 33.9 TXNDC9 SLC6A3 PRNP MAPT
2 frontotemporal dementia, chromosome 3-linked 32.3 MAPT GRN CHMP2B
3 frontotemporal dementia 31.1 PRNP MAPT GRN CHMP2B C9orf72
4 amnestic disorder 30.4 MAPT LGI1 CNTNAP2
5 speech disorder 30.3 TOR3A MAPT GRIN2A CNTNAP2
6 autoimmune encephalitis 30.3 LGI1 CNTNAP2
7 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 30.3 MAPT GRN
8 oppositional defiant disorder 30.2 TOR3A SLC6A3 LXN
9 alacrima, achalasia, and mental retardation syndrome 30.1 SLC9A6 SHANK3 GRIN2A GRIN1
10 gait apraxia 30.0 PRNP GRN
11 apraxia 30.0 SLC6A3 MAPT GRN CNTNAP2 C9orf72
12 auditory agnosia 30.0 PRNP LGI1
13 phobia, specific 29.8 TOR3A NBAS LXN
14 childhood disintegrative disease 29.8 TOR3A CNTNAP2
15 separation anxiety disorder 29.7 TOR3A SLC6A3 NBAS LXN
16 asperger syndrome 29.7 TOR3A SHANK3 CNTNAP2
17 nominal aphasia 29.7 MAPT GRN CHMP2B C9orf72
18 autism 29.6 SLC6A3 SHANK3 MAPT GRIN2A GRIN1 CNTNAP2
19 pica disease 29.6 MAPT C9orf72
20 focal epilepsy 29.6 MAPT LGI1 GRIN2A CNTNAP2
21 pervasive developmental disorder 29.5 TOR3A SLC9A6 SLC6A3 GRIN2A CNTNAP2
22 toxic encephalopathy 29.5 SLC6A3 PRNP MAPT GRIN2A
23 dysgraphia 29.4 MAPT GRN CHMP2B C9orf72
24 prion disease 29.4 TXNDC9 PRNP MAPT
25 lingual-facial-buccal dyskinesia 29.4 SLC6A3 LGI1 GRIN2A GRIN1 CNTNAP2
26 obsessive-compulsive disorder 29.2 SLC6A3 GRIN2A CNTNAP2 C9orf72
27 cortical deafness 29.2 TXNDC9 PRNP LGI1 ATP1A3
28 agraphia 29.2 PRNP MAPT GRN C9orf72
29 movement disease 29.1 SLC6A3 MAPT GRN C9orf72 ATP1A3
30 schizophrenia 28.9 SLC6A3 SHANK3 MAPT GRIN2A GRIN1 CNTNAP2
31 aphasia 28.8 PRNP MAPT LGI1 GRN GRIN2A GRIN1
32 supranuclear palsy, progressive, 1 28.8 SLC6A3 PRNP MAPT GRN CHMP2B C9orf72
33 dementia 28.8 SLC6A3 PRNP MAPT GRN CHMP2B C9orf72
34 epilepsy 28.5 SLC9A6 SLC6A3 MAPT LGI1 GRIN2A GRIN1
35 dystonia 28.4 TOR3A SLC6A3 GRN GRIN2A CHMP2B C9orf72
36 speech and communication disorders 28.2 TOR3A SLC6A3 MAPT LGI1 GRN GRIN2A
37 elective mutism 12.9
38 central pontine myelinolysis 11.5
39 syndromic x-linked intellectual disability 12 11.2
40 7q11.23 duplication syndrome 11.2
41 short stature deafness neutrophil dysfunction 11.2
42 grn-related frontotemporal lobar degeneration 11.2
43 extrapontine myelinolysis 11.2
44 medulloblastoma 10.6
45 social phobia 10.5
46 anxiety 10.5
47 hydrocephalus 10.5
48 autosomal dominant epilepsy with auditory features 10.4 LGI1 CNTNAP2
49 branchiootic syndrome 1 10.4
50 dissociative amnesia 10.4 LGI1 CNTNAP2

Graphical network of the top 20 diseases related to Mutism:



Diseases related to Mutism

Symptoms & Phenotypes for Mutism

UMLS symptoms related to Mutism:


photophobia, restlessness, scanning speech, personality changes, pseudobulbar behavioral symptoms, sleep disturbances, aphonia

GenomeRNAi Phenotypes related to Mutism according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Sindbis virus (SINV) infection GR00310-A-1 9.23 C9orf72 CHMP2B LGI1 LXN
2 Decreased Sindbis virus (SINV) infection GR00310-A-2 9.23 C9orf72 CHMP2B LGI1 LXN

MGI Mouse Phenotypes related to Mutism:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.33 ATP1A3 C9orf72 CNTNAP2 GRIN1 GRIN2A GRN
2 growth/size/body region MP:0005378 10.25 ATP1A3 C9orf72 CNTNAP2 GJB2 GRIN1 GRN
3 homeostasis/metabolism MP:0005376 10.22 ATP1A3 C9orf72 GJB2 GRIN1 GRN MAPT
4 mortality/aging MP:0010768 10.2 ATP1A3 C9orf72 CHMP2B GJB2 GRIN1 GRN
5 integument MP:0010771 10.18 ATP1A3 C9orf72 CNTNAP2 GJB2 GRIN2A GRN
6 nervous system MP:0003631 10.16 ATP1A3 C9orf72 CHMP2B CNTNAP2 GJB2 GRIN1
7 no phenotypic analysis MP:0003012 9.76 C9orf72 GJB2 GRIN1 GRN MAPT MITF
8 taste/olfaction MP:0005394 9.35 CNTNAP2 GRIN1 MAPT SHANK3 SLC6A3
9 vision/eye MP:0005391 9.32 CHMP2B GJB2 GRIN1 GRN LGI1 MAPT

Drugs & Therapeutics for Mutism

Drugs for Mutism (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fluoxetine Approved, Vet_approved Phase 3 54910-89-3 3386
2 Antidepressive Agents Phase 3
3 Cytochrome P-450 Enzyme Inhibitors Phase 3
4 Neurotransmitter Agents Phase 3
5 Serotonin Uptake Inhibitors Phase 3
6 Psychotropic Drugs Phase 3
7
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
8
Cycloserine Approved Phase 2 68-41-7 401 6234
9
Carbon monoxide Approved, Investigational Phase 1, Phase 2 630-08-0 281
10 Anti-Infective Agents Phase 2
11 Antitubercular Agents Phase 2
12 Anti-Bacterial Agents Phase 2
13 Antibiotics, Antitubercular Phase 2
14 Antimetabolites Phase 2
15
carbamide peroxide Approved 124-43-6
16
Tacrolimus Approved, Investigational 104987-11-3 445643 439492 6473866
17
Aspartic acid Approved, Nutraceutical 56-84-8 5960
18 Complement System Proteins
19 Liver Extracts
20 N-Methylaspartate
21 Calcium, Dietary
22
Bilirubin 69853-43-6, 635-65-4 21252250 5280352
23 Anesthetics
24
L-Alanine Nutraceutical 56-41-7 5950
25
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show all 28)
# Name Status NCT ID Phase Drugs
1 Treatment of Childhood Social Phobia Completed NCT00043537 Phase 3 Fluoxetine;Pill Placebo
2 The Use of D-Cycloserine to Augment Intensive Cognitive Behavioral Therapy for Pediatric Obsessive Compulsive Disorder Unknown status NCT01687140 Phase 2 D-Cycloserine;Placebo
3 How to Help When Silence is Not Golden A RCT Study of Selective Mutism Completed NCT01002196 Phase 2
4 A Brief Behavioral Treatment for Anxiety in Young Children Completed NCT02051192 Phase 1, Phase 2
5 Hyperbaric Oxygen for Carbon Monoxide Induced Chronic Encephalopathy Not yet recruiting NCT04118491 Phase 1, Phase 2
6 Effectiveness of Cognitive-Behavioral Therapy for Children With High-Functioning Autism Spectrum Disorder and Anxiety Completed NCT01187784 Phase 1
7 Application of Diffusion Tensor Imaging and Tractography in Pediatric Tumor Surgery Unknown status NCT02810626
8 Effect of rTMS Over the Medial Cerebellum on Negative Symptoms and Cognitive Dysmetria in Subjects With Treatment Refractory Schizophrenia Unknown status NCT02242578
9 Management of Acute Disseminated Encephalomyelitis in Neurology Unit of Assiut University Children Hospital Unknown status NCT03284801
10 Effectiveness of a Web-Based CBT Protocol for Treatment of Selective Mutism in Singapore Completed NCT02009839
11 A Psychometric Questionnaire Study With a Control Group Design of Children and Young People With Selective Mutism, as Well as on Adults Who Suffered Selective Mutism Earlier in Life Completed NCT04233905
12 Long-Term Impact of Posterior Fossa Mutism on Quality of Life Completed NCT02048176
13 Evaluating Intensive Group Behavioral Treatment for Children With Selective Mutism Completed NCT03612102
14 What Treatment Works for Children With Selective Mutism? A Treatment Pilot Study Completed NCT00554749
15 Integrated Behavioral Treatment for Selective Mutism Completed NCT00458198
16 Efficacy of a Group Cognitive Behavioral Therapy Program in the Treatment of Young Children With Social Anxiety Disorder and/or Selective Mutism: A Randomized Controlled Trial Completed NCT02554929
17 Preventing Health Disparities in Hispanic Youth Completed NCT02318745
18 Advanced MRI in Surgery for Posterior Fossa Tumours - Predicting Post-operative Paediatric Cerebellar Mutism Syndrome and Surgical Guidance to Avoid it Recruiting NCT03471026
19 Evaluating an Online Adjunctive Support Following Intensive Services (OASIS) Strategy for Youth With Selective Mutism Recruiting NCT04291638
20 Vagus Nerve Stimulation in Patients With Chronic Consciousness Disorders Recruiting NCT02591069
21 A Non-Interventional Pilot Study to Explore the Role of Gut Flora in Autism Recruiting NCT04100863
22 Nordic Study of the Cerebellar Mutism Syndrome in Children With Brain Tumours of the Posterior Fossa Recruiting NCT02300766
23 Evaluation of Preoperative and Postoperative S100β and Neuron Specific Enolase Levels in Patients Undergoing Liver Transplantation Recruiting NCT03453047
24 Comparison of Patient-Centered Versus Provider-Centered Delivery of Cognitive Behavioral Treatment (CBT) for Pediatric Anxiety and Obsessive Compulsive Disorder (OCD) Recruiting NCT03528109
25 Perioperative Optic Nerve Sheath Diameter As A Predictor Of Early Tacrolimus Neurotoxicity In Living Donor Liver Transplantation Recruiting NCT03799770
26 Pilot Study: Functional Imaging of Cerebellar Mutism Syndrome Active, not recruiting NCT01733173
27 Child's Study of the Distant Impact of Posterior Fossa Injury on Motor Skills, Language, Cognitive Functioning, and Social Cognition - a Combination of Clinical Assessments and Brain Imaging Not yet recruiting NCT04174820
28 Prospective Treatment Study of Catatonia Patients With Right Unilateral Electroconvulsive Treatment (RUL ECT) and Bilateral Electroconvulsive Treatment (BL ECT) Regimens Terminated NCT02734498

Search NIH Clinical Center for Mutism

Cochrane evidence based reviews: mutism

Genetic Tests for Mutism

Genetic tests related to Mutism:

# Genetic test Affiliating Genes
1 Mutism 29

Anatomical Context for Mutism

MalaCards organs/tissues related to Mutism:

40
Brain, Liver, Cerebellum, Thyroid, Testes, Eye, Thalamus

Publications for Mutism

Articles related to Mutism:

(show top 50) (show all 2030)
# Title Authors PMID Year
1
Analysis of Chinese patients with sporadic Creutzfeldt-Jakob disease. 61
32378453 2020
2
Evaluation of a Novel Parent-Rated Scale for Selective Mutism. 61
30010386 2020
3
Preoperative prediction of postoperative cerebellar mutism syndrome. Validation of existing MRI models and proposal of the new Rotterdam pCMS prediction model. 61
32072230 2020
4
Cerebellar mutism after embolization of vermian arteriovenous malformation. 61
31897635 2020
5
Cerebellar mutism after posterior fossa tumor resection in children: a multicenter international retrospective study to determine possible modifiable factors. 61
30659354 2020
6
Cerebellar mutism: the predictive role of preoperative language evaluation. 61
31201497 2020
7
Pediatric post-operative cerebellar mutism syndrome, cerebellar cognitive affective syndrome, and posterior fossa syndrome: historical review and proposed resolution to guide future study. 61
31240391 2020
8
Corticobasal degeneration with deep white matter lesion diagnosed by brain biopsy. 61
31925842 2020
9
A Case of Creutzfeldt-Jakob Disease with Stroke-Like Onset. 61
32234269 2020
10
Medial-tonsillar telovelar approach for resection of a superior medullary velum cerebral cavernous malformation: anatomical and tractography study of the surgical approach and functional implications. 61
32524247 2020
11
Cerebellar mutism syndrome: current approaches to minimize risk for CMS. 61
31273496 2020
12
Down Syndrome Disintegrative Disorder: A Clinical Regression Syndrome of Increasing Importance. 61
32471843 2020
13
[A case of hereditary diffuse leukoencephalopathy with spheroids and pigmented glia presenting with long-term mild psychiatric symptoms]. 61
32435043 2020
14
Loss of SLC9A6/NHE6 impairs nociception in a mouse model of Christianson Syndrome. 61
32569089 2020
15
Posterior Fossa Society Consensus Meeting 2018: a synopsis. 61
31177321 2020
16
Intraoperative neurophysiology of the cerebellum: a tabula rasa. 61
32246192 2020
17
Post-operative cerebellar mutism syndrome: rehabilitation issues. 61
31222445 2020
18
Introduction to the cerebellar mutism syndrome. 61
31399763 2020
19
Radiology of post-operative paediatric cerebellar mutism syndrome. 61
31183530 2020
20
The supplementary motor area syndrome and the cerebellar mutism syndrome: a pathoanatomical relationship? 61
31127340 2020
21
Sequential Implementation of Functional Behavior Assessment-Informed Treatment Components for Sleep Disturbance in Autism: A Case Study. 61
32397846 2020
22
Identification of intracerebral hemorrhage in the early-phase of MM1+2C-type sporadic Creutzfeldt-Jakob disease: A case report. 61
32367540 2020
23
MM2 cortical form of sporadic Creutzfeldt-Jakob disease without progressive dementia and akinetic mutism: A case deviating from current diagnostic criteria. 61
32114028 2020
24
Steroid-Responsive Encephalitis in Coronavirus Disease 2019. 61
32418288 2020
25
[MERS type II mimicking leukoencephalopathy was suspected to be associated with mycoplasma pneumonia infection]. 61
32307392 2020
26
18F-FDG PET/CT Brain in a Case of Agrammatic/Nonfluent Variant of Primary Progressive Aphasia (Broca's Aphasia). 61
32209883 2020
27
Understanding the Outcome of Children who Selectively Do not Speak: A Retrospective Approach. 61
32405308 2020
28
The impact of parental psychopathology and sociodemographic factors in selective mutism - a nationwide population-based study. 61
32398046 2020
29
On the pathophysiology and treatment of akinetic mutism. 61
32044373 2020
30
Catatonia in N-methyl-d-aspartate receptor antibody encephalitis: Phenomenological characteristics from a systematic review of case reports. 61
32070914 2020
31
Anxiety in Children with Selective Mutism: A Meta-analysis. 61
31650460 2020
32
The Eye Color Experiment: From Berlin to Auschwitz and Back. 61
32286023 2020
33
An unusual presentation of sporadic Creutzfeldt-Jakob disease. 61
32219420 2020
34
Clinical Presentation of Sporadic Creutzfeldt-Jakob Disease in Han-Chinese. 61
31651418 2020
35
The Relationship of Family Accommodation with Pediatric Anxiety Severity: Meta-analytic Findings and Child, Family and Methodological Moderators. 61
32246361 2020
36
The Selective Mutism Questionnaire: Data from typically developing children and children with selective mutism. 61
32281879 2020
37
Catatonia with GABAA receptor antibodies. 61
31771952 2020
38
Video self-modeling, fading, and reinforcement: An effective treatment package for children with selective mutism. 61
31213074 2020
39
Catatonia as a feature of down syndrome: An under-recognised entity? 61
31959555 2020
40
Fluoxetine-related mania in an adolescent girl diagnosed with selective mutism: A case report. 61
31222962 2020
41
Neuroanatomy of pediatric postoperative cerebellar cognitive affective syndrome and mutism. 61
32033987 2020
42
Away with the fairies: the psychopathology of visionary encounters in early modern Scotland. 61
31603359 2020
43
Characterizing Posterior Fossa Syndrome: A Survey of Experts. 61
31911026 2020
44
Spontaneous Intracranial Hypotension: Case Study and Review of the Literature. 61
32211254 2020
45
Subacute Neuropsychiatric Syndrome in Girls With SHANK3 Mutations Responds to Immunomodulation. 61
32015180 2020
46
A comparison study assessing neuropsychological outcome of patients with post-operative pediatric cerebellar mutism syndrome and matched controls after proton radiation therapy. 61
31325031 2020
47
Developmental aspects of FXAND in a man with the FMR1 premutation. 61
31899609 2020
48
Molecular correlates of cerebellar mutism syndrome in medulloblastoma. 61
31504816 2020
49
Conversations on mutism: risk stratification for cerebellar mutism based on medulloblastoma subtype. 61
31792531 2020
50
Neuropsychological Profile in Children with Posterior Fossa Tumors with or Without Postoperative Cerebellar Mutism Syndrome (CMS). 61
31832994 2020

Variations for Mutism

ClinVar genetic disease variations for Mutism:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SHANK3 NM_033517.1(SHANK3):c.3637dup (p.His1213fs)duplication Pathogenic 397528 rs1555910162 22:51159897-51159898 22:50721469-50721470

Expression for Mutism

Search GEO for disease gene expression data for Mutism.

Pathways for Mutism

Pathways related to Mutism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.63 SHANK3 PRNP MAPT GRIN2A GRIN1 CNTNAP2
2
Show member pathways
11.2 SLC6A3 GRIN2A GRIN1
3 10.48 GRIN2A GRIN1

GO Terms for Mutism

Cellular components related to Mutism according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 10.04 TOR3A PRNP NBAS GRN GRIN2A GRIN1
2 cell surface GO:0009986 9.91 SLC6A3 PRNP GRIN2A GRIN1 CNTNAP2
3 axon GO:0030424 9.77 SLC6A3 MAPT CNTNAP2 C9orf72 ATP1A3
4 postsynaptic density GO:0014069 9.65 SHANK3 PRNP GRIN2A GRIN1 CHMP2B
5 neuron projection GO:0043005 9.63 SLC6A3 SHANK3 MAPT GRIN2A GRIN1 C9orf72
6 dendritic spine GO:0043197 9.62 SHANK3 MAPT GRIN2A GRIN1
7 cell GO:0005623 9.61 TXNDC9 SLC9A6 PRNP MAPT GRN GRIN2A
8 synaptic cleft GO:0043083 9.48 LGI1 GRIN1
9 axolemma GO:0030673 9.46 MAPT CNTNAP2
10 NMDA selective glutamate receptor complex GO:0017146 9.43 GRIN2A GRIN1
11 main axon GO:0044304 9.4 MAPT C9orf72
12 dendrite GO:0030425 9.17 SLC9A6 SHANK3 PRNP MAPT GRIN1 CNTNAP2

Biological processes related to Mutism according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 response to ethanol GO:0045471 9.72 SLC6A3 GRIN2A GRIN1
2 learning or memory GO:0007611 9.65 PRNP GRIN2A GRIN1
3 regulation of synaptic plasticity GO:0048167 9.58 MAPT GRIN2A GRIN1
4 stress granule assembly GO:0034063 9.57 MAPT C9orf72
5 startle response GO:0001964 9.56 GRIN2A GRIN1
6 vocalization behavior GO:0071625 9.54 SHANK3 CNTNAP2
7 social behavior GO:0035176 9.54 SHANK3 GRIN1 CNTNAP2
8 prepulse inhibition GO:0060134 9.52 SLC6A3 GRIN1
9 neuron projection maintenance GO:1990535 9.51 PRNP ATP1A3
10 excitatory chemical synaptic transmission GO:0098976 9.49 GRIN2A GRIN1
11 calcium ion transmembrane import into cytosol GO:0097553 9.46 GRIN2A GRIN1
12 memory GO:0007613 9.46 SHANK3 MAPT GRIN2A GRIN1
13 vocal learning GO:0042297 9.43 SHANK3 CNTNAP2
14 regulation of long-term synaptic depression GO:1900452 9.32 SHANK3 MAPT
15 protein localization to postsynaptic membrane GO:1903539 9.26 GRIN2A GRIN1
16 learning GO:0007612 9.26 SHANK3 GRIN2A GRIN1 CNTNAP2
17 cellular response to amyloid-beta GO:1904646 8.92 PRNP GRIN2A GRIN1 ATP1A3

Molecular functions related to Mutism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ionotropic glutamate receptor activity GO:0004970 9.32 GRIN2A GRIN1
2 NMDA glutamate receptor activity GO:0004972 9.26 GRIN2A GRIN1
3 chaperone binding GO:0051087 9.26 PRNP MAPT GRN ATP1A3
4 glutamate-gated calcium ion channel activity GO:0022849 9.16 GRIN2A GRIN1
5 amyloid-beta binding GO:0001540 8.92 PRNP GRIN2A GRIN1 ATP1A3

Sources for Mutism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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